Farber's disease describes a group of inherited metabolic disorders called lipids. Things like oils, fatty acids, and related compounds build up to harmful levels in the joints, tissues, and the central nervous system. It can also affect the liver, kidneys, and even your heart. This disorder can affect both males and females.
Symtoms are typically seen in the first few weeks of life and include impaired motor and mental ability and difficulty with swallowing. Arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin, chronic shortening of muscels or tendons around the joints and vomiting. Some sever cases the liver and spleen can be enlarged. This is caused by a dificiency of the enzyme ceramidase. This disorder can occur when both parents carry and pass on the defective gene that regulates the protein. Children that are born to these parents have a 25% chance of inheriting the disorder and 50% have the chance of carrying the faulty gene.
18 months post-transplant status of patient #1 with complete resolution of inflammatory nodules
Is there a treatment?
There is no treatment yet, well none specific. Corticosteriods can help relieve the pain. Nodes can be treated with bone marrow transplants. Depending on how bad the disease is at that point they may be reduced or removed.
Nodes- an important part of your immune system. Lymph nodes help your body recognize and fight germs, infections, and other foreign substances. Pre-transplant status of patient #1, right hand (palmar view).
Molecular basis
No molecular forms corresponding to precursor or proteolytically processed mature proteins were observed. The finding indicate that any functionally active acid ceramidase in absent patient cells, underscoring the severity of the clinical phenotype. Molecular findings in the non-consanguineous patients confirmed the compound heterozygous ASAH1 genotype identified in the Farber case. Pre-transplant status of patient #1, right hand (thumb), with inflammatory nodules.
By.Adrieanna
Table of Contents
What is it?
Farber's disease describes a group of inherited metabolic disorders called lipids. Things like oils, fatty acids, and related compounds build up to harmful levels in the joints, tissues, and the central nervous system. It can also affect the liver, kidneys, and even your heart. This disorder can affect both males and females.Symtoms are typically seen in the first few weeks of life and include impaired motor and mental ability and difficulty with swallowing. Arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin, chronic shortening of muscels or tendons around the joints and vomiting. Some sever cases the liver and spleen can be enlarged. This is caused by a dificiency of the enzyme ceramidase. This disorder can occur when both parents carry and pass on the defective gene that regulates the protein. Children that are born to these parents have a 25% chance of inheriting the disorder and 50% have the chance of carrying the faulty gene.
18 months post-transplant status of patient #1 with complete resolution of inflammatory nodulesIs there a treatment?
There is no treatment yet, well none specific. Corticosteriods can help relieve the pain. Nodes can be treated with bone marrow transplants. Depending on how bad the disease is at that point they may be reduced or removed.Nodes- an important part of your immune system. Lymph nodes help your body recognize and fight germs, infections, and other foreign substances.
Pre-transplant status of patient #1, right hand (palmar view).
Molecular basis
No molecular forms corresponding to precursor or proteolytically processed mature proteins were observed. The finding indicate that any functionally active acid ceramidase in absent patient cells, underscoring the severity of the clinical phenotype. Molecular findings in the non-consanguineous patients confirmed the compound heterozygous ASAH1 genotype identified in the Farber case.Pre-transplant status of patient #1, right hand (thumb), with inflammatory nodules.
Cites Used
http://en.wikipedia.org/wiki/Corticosteroid